Mutagenetix > Incidental Mutation

Incidental Mutation 'R5804:Ube3d'

448409

Institutional Source

Beutler Lab

Gene Symbol

Ube3d

Ensembl Gene

ENSMUSG00000032415

Gene Name

ubiquitin protein ligase E3D

Synonyms

2610018I03Rik, Ube2cbp

MMRRC Submission

043211-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.861) question?

Stock #

R5804 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86189364-86347003 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86307401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 233 (I233V)

Ref Sequence

ENSEMBL: ENSMUSP00000034986 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034986] [ENSMUST00000121189]

AlphaFold

Q8BX13

Predicted Effect

probably benign
Transcript: ENSMUST00000034986
AA Change: I233V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000034986
Gene: ENSMUSG00000032415
AA Change: I233V

Domain	Start	End	E-Value	Type
Pfam:HECT_2	13	364	1e-104	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121189

SMART Domains

Protein: ENSMUSP00000113549
Gene: ENSMUSG00000032415

Domain	Start	End	E-Value	Type
Pfam:HECT_2	13	364	2.6e-80	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele cannot be obtained. Heterozygotes exhibit abnormal retinal pigment epithelium morphology and decreased a- and b-wave amplitude. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	A	T	16: 8,396,100 (GRCm39)	R19*	probably null	Het
Abcb9	A	G	5: 124,218,118 (GRCm39)	M406T	probably benign	Het
Ager	A	G	17: 34,817,157 (GRCm39)	E32G	probably damaging	Het
Cdk10	T	A	8: 123,955,579 (GRCm39)		probably null	Het
Cfap97d1	A	G	11: 101,881,640 (GRCm39)	N112S	probably damaging	Het
Ctsl	A	T	13: 64,514,302 (GRCm39)	Y259N	probably damaging	Het
Ctu2	T	C	8: 123,207,965 (GRCm39)		probably null	Het
Dse	T	A	10: 34,029,375 (GRCm39)	I572F	possibly damaging	Het
Flt1	A	T	5: 147,517,247 (GRCm39)		probably null	Het
Gatm	T	A	2: 122,433,083 (GRCm39)	Y193F	probably benign	Het
Gpaa1	T	C	15: 76,216,826 (GRCm39)	F170S	probably damaging	Het
Grm3	A	G	5: 9,620,155 (GRCm39)	L363P	probably benign	Het
Heatr5b	G	A	17: 79,138,951 (GRCm39)	P64S	probably damaging	Het
Hfm1	A	G	5: 107,026,455 (GRCm39)		probably null	Het
Hivep2	A	C	10: 14,009,519 (GRCm39)	K1725N	probably benign	Het
Hmcn1	A	T	1: 150,550,098 (GRCm39)	C2695*	probably null	Het
Hmgcr	G	A	13: 96,802,695 (GRCm39)	T68M	probably damaging	Het
Igsf21	A	T	4: 139,755,385 (GRCm39)	D423E	possibly damaging	Het
Jag1	T	C	2: 136,930,124 (GRCm39)	N751S	probably benign	Het
Klrc2	A	T	6: 129,637,436 (GRCm39)	N28K	possibly damaging	Het
Lrrc8c	A	T	5: 105,727,423 (GRCm39)	D29V	possibly damaging	Het
Mtcl1	A	C	17: 66,650,132 (GRCm39)	S1329A	probably benign	Het
Nin	C	T	12: 70,092,375 (GRCm39)	V645I	possibly damaging	Het
Or4c127	T	C	2: 89,833,332 (GRCm39)	I194T	possibly damaging	Het
Or51i1	T	C	7: 103,671,439 (GRCm39)	I29V	probably benign	Het
Or8s2	T	A	15: 98,276,215 (GRCm39)	M259L	probably benign	Het
Or9g4	T	A	2: 85,504,682 (GRCm39)	D271V	probably damaging	Het
Pfpl	A	T	19: 12,407,027 (GRCm39)	H426L	probably benign	Het
Poteg	A	G	8: 27,946,826 (GRCm39)	D238G	probably damaging	Het
Psen1	T	C	12: 83,778,474 (GRCm39)	F386L	probably damaging	Het
Rassf9	A	T	10: 102,380,905 (GRCm39)	I96F	probably damaging	Het
Robo1	T	C	16: 72,840,077 (GRCm39)		probably null	Het
Slc16a4	A	T	3: 107,206,280 (GRCm39)	M117L	probably benign	Het
Slc4a8	A	G	15: 100,689,506 (GRCm39)	N372S	possibly damaging	Het
Stmn4	G	A	14: 66,593,748 (GRCm39)	G47D	probably benign	Het
Tex26	A	G	5: 149,386,612 (GRCm39)	N137S	possibly damaging	Het
Ttn	T	A	2: 76,747,163 (GRCm39)	I4629F	probably benign	Het
Ubash3a	G	A	17: 31,427,206 (GRCm39)		probably null	Het
Utrn	T	A	10: 12,297,369 (GRCm39)	T680S	probably damaging	Het
Vps13d	G	A	4: 144,826,640 (GRCm39)	T2846I	probably benign	Het
Zbtb22	TGGACCCGGGAC	TGGACCCGGGACCCGGGAC	17: 34,137,593 (GRCm39)		probably null	Het
Zfp41	C	T	15: 75,490,557 (GRCm39)	P170S	probably damaging	Het

Other mutations in Ube3d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0653:Ube3d	UTSW	9	86,334,043 (GRCm39)	missense	possibly damaging	0.95
R1163:Ube3d	UTSW	9	86,322,648 (GRCm39)	missense	probably benign	0.00
R1928:Ube3d	UTSW	9	86,305,056 (GRCm39)	missense	probably damaging	1.00
R1938:Ube3d	UTSW	9	86,330,840 (GRCm39)	missense	probably damaging	1.00
R2131:Ube3d	UTSW	9	86,254,540 (GRCm39)	splice site	probably null
R2760:Ube3d	UTSW	9	86,305,027 (GRCm39)	missense	probably benign	0.00
R4916:Ube3d	UTSW	9	86,304,925 (GRCm39)	missense	probably damaging	1.00
R5434:Ube3d	UTSW	9	86,309,460 (GRCm39)	missense	possibly damaging	0.95
R5827:Ube3d	UTSW	9	86,254,489 (GRCm39)	missense	possibly damaging	0.95
R5936:Ube3d	UTSW	9	86,254,512 (GRCm39)	missense	probably benign	0.00
R7275:Ube3d	UTSW	9	86,322,679 (GRCm39)	missense	probably damaging	1.00
R7507:Ube3d	UTSW	9	86,304,939 (GRCm39)	missense	possibly damaging	0.95
R7533:Ube3d	UTSW	9	86,304,990 (GRCm39)	missense	probably damaging	0.98
R7787:Ube3d	UTSW	9	86,254,395 (GRCm39)	missense	possibly damaging	0.79
R9252:Ube3d	UTSW	9	86,254,501 (GRCm39)	missense	probably damaging	1.00
R9506:Ube3d	UTSW	9	86,330,825 (GRCm39)	missense	probably damaging	0.96
X0019:Ube3d	UTSW	9	86,304,941 (GRCm39)	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- CCTAAAGAACCTAGGATGCACG -3'
(R):5'- GGGTGAATTTTAAGGAGACTGGTAC -3'

Sequencing Primer
(F):5'- GGCACCCAGTTATATGGTACTAAATG -3'
(R):5'- TTTTAAGGAGACTGGTACAAACAC -3'

Posted On

2016-12-15